Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanBOR syndrome
ORPHA:107Malformation syndrome
Also called Branchiootorenal spectrum disorder · Branchiootorenal syndrome · Melnick-Fraser syndrome
What it is
A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).
Key facts
- Prevalence
- 1-9 / 100 000
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
4- Abnormality of the inner earDiagnostic criterion
- Abnormality of the middle earDiagnostic criterion
- Hearing impairmentDiagnostic criterion
- Preauricular pitDiagnostic criterion
Common30–79%
16- Abnormality of the middle ear ossicles
- Abnormal pinna morphology
- Aplasia/Hypoplasia of the cochlea
- Atresia of the external auditory canal
- Branchial anomalyDiagnostic criterion
- Branchial cystDiagnostic criterion
- Branchial sinusDiagnostic criterion
- Conductive hearing impairment
- Enlarged cochlear aqueduct
- Enlarged vestibular aqueduct
- Hypoplasia of the cochlea
- Lop ear
- Mixed hearing impairment
- Preauricular skin tagDiagnostic criterion
- Renal hypoplasia/aplasia
- Stenosis of the external auditory canal
Sometimes5–29%
18- Abnormality of the outer earDiagnostic criterion
- Abnormal lacrimal duct morphology
- Cleft palate
- Dilatation of renal calices
- Euthyroid goiter
- Facial asymmetry
- Facial palsy
- Gustatory lacrimation
and 10 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.